Updated: January 1, 2025
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) is a rare, genetic lysosomal storage disorder. This disorder results in childhood onset of proximal muscle weakness and muscular atrophy due to degeneration of spinal motor neurons, followed by the onset of myoclonic seizures. Children with SMA-PME have a shortened lifespan and generally only live into late childhood or early adulthood.
There is no cure for SMA-PME yet. This disorder is due to inherited mutations in the ASAH1 gene which provides instructions for making an enzyme called acid ceramidase. Acid ceramidase is found in cell compartments called lysosomes, which digest and recycle materials in all our cells (i.e., take out the trash). Mutations in the ASAH1 gene lead to severe reduction in acid ceramidase, typically to below 30 percent of normal. As a result, the enzyme cannot break down ceramides properly resulting in both build up in the lysosomes and impaired production of its breakdown products which ultimately lead to the progressive symptoms seen in this disorder (way too much trash to the degree that it interferes with vital life functions). This condition is extremely rare. Only a few dozen cases are reported worldwide.
There is a related disorder called Farber Disease or Farber lipogranulomatosis in which 200 or so cases have been reported (despite the first case being identified in 1947 for Farber Disease, in 1978 for SMA-PME). Farber Disease is a more severe variant with rare survival past childhood.
The problem here is that this is a very rare disease, and medical research money tends to go to diseases that affect many more people (more bang for the buck). So the challenge is to get researchers interested in researching this kind of rare disease. The only remedy for this is money. Medial research is driven by money in the form of grants from governments and private sources. What SMA-PME Research seeks is to help fund a private source to pay for a medical researcher to invest the time and resources to perhaps find a cure. This all makes sense. Medical research will not happen unless it is funded. We are asking you to help fund the research so that children afflicted with this rare disorder, and their families, can have some hope for a cure.
Some useful links:
Wikipedia:
https://en.wikipedia.org/wiki/Spinal_muscular_atrophy_with_progressive_myoclonic_epilepsy
National Institute of Health:
https://search.nih.gov/search?utf8=%E2%9C%93&affiliate=hip&query=SMA-PME&commit=Go
SMA-PME Research 